Canonical Allele Identifier: CA581616614

Gene: THAP1

Linked Data

• dbSNP Id: rs1223370810
• gnomAD v2: 8-42694049-C-A
• MyVariant Identifiers: chr8:g.42694049C>A (hg19) ; chr8:g.42838906C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42838906C>A , CM000670.2:g.42838906C>A	GRCh38
NC_000008.10:g.42694049C>A , CM000670.1:g.42694049C>A	GRCh37
NC_000008.9:g.42813206C>A	NCBI36
NG_011837.1:g.9426G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254250.7:c.267+280G>T MANE Select	ENSP00000254250.3:n.267+280G>T
ENST00000345117.2:c.72-570G>T	ENSP00000344966.2:n.72-570G>T
ENST00000529779.1:c.267+280G>T	ENSP00000433912.1:n.267+280G>T
NM_018105.2:c.267+280G>T	NP_060575.1:n.267+280G>T
NM_199003.1:c.72-570G>T	NP_945354.1:n.72-570G>T
NM_018105.3:c.267+280G>T MANE Select	NP_060575.1:n.267+280G>T
NM_199003.2:c.72-570G>T	NP_945354.1:n.72-570G>T